RET c.2305C>T ;(p.L769=)

Variant ID: 10-43613841-C-T

NM_020975.4(RET):c.2305C>T;(p.L769=)

This variant was identified in 48 publications

View GRCh38 version.




Publications:


The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update.

Biomedicines
Tiucă, Robert Aurelian RA; Tiucă, Oana Mirela OM; Pașcanu, Ionela Maria IM
Publication Date: 2023-04-02

Variant appearance in text: RET: L769L
PubMed Link: 37189693
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01075.pdf
View BVdb publication page



Genomic profiles of Indonesian colorectal cancer patients.

F1000Research
Abdullah, Murdani M; Meilany, Sofy S; Trimarsanto, Hidayat H; Malik, Safarina G SG; Sukartini, Ninik N; Idrus, Firhat F; Nursyirwan, Saskia A SA; Muzellina, Virly N VN; Pribadi, Rabbinu R RR; Utari, Amanda P AP; Maulahela, Hasan H; Syam, Ari F AF
Publication Date: 2022

Variant appearance in text: RET: L769L
PubMed Link: 37125020
Variant Present in the following documents:
  • Main text
  • f1000research-11-144370.pdf
View BVdb publication page



A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences
Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT
Publication Date: 2022

Variant appearance in text: RET: L769L
PubMed Link: 36213130
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 10
View BVdb publication page



Current status of the prognostic molecular markers in medullary thyroid carcinoma.

Endocrine Connections
Oczko-Wojciechowska, Malgorzata M; Czarniecka, Agnieszka A; Gawlik, Tomasz T; Jarzab, Barbara B; Krajewska, Jolanta J
Publication Date: 2020-12

Variant appearance in text: RET: L769L
PubMed Link: 33112827
Variant Present in the following documents:
  • Main text
  • EC-20-0374.pdf
View BVdb publication page



The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Journal Of Cellular And Molecular Medicine
Yang, Zheng Z; Qi, Xinmeng X; Gross, Neil N; Kou, Xiujuan X; Bai, Yunlong Y; Feng, Yaru Y; Wang, Bochun B; Zafereo, Mark E ME; Li, Guojun G; Sun, Chuanzheng C; Li, Huihui H; Chen, Xiaohong X; Huang, Zhigang Z
Publication Date: 2020-11

Variant appearance in text: RET: L769L
PubMed Link: 32989896
Variant Present in the following documents:
  • JCMM-24-13163.pdf
View BVdb publication page



Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International
Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R
Publication Date: 2020

Variant appearance in text: RET: Leu769Leu
PubMed Link: 32090079
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: RET: L769L
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.

Cancer Medicine
Mishra, Vasudha V; Kowtal, Pradnya P; Rane, Pallavi P; Sarin, Rajiv R
Publication Date: 2019-10

Variant appearance in text: RET: L769L
PubMed Link: 31408923
Variant Present in the following documents:
  • Main text
  • CAM4-8-6151.pdf
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: RET: L769L
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The RET C611Y mutation causes MEN 2A and associated cutaneous

Endocrine Connections
Qi, Xiao-Ping XP; Peng, Jian-Zhong JZ; Yang, Xiao-Wei XW; Zao, Zhi-Li ZL; Yu, Xiu-Hua XH; Fang, Xu-Dong XD; Zhang, Da-Hong DH; Zhao, Jian-Qiang JQ
Publication Date: 2018-09-01

Variant appearance in text: RET: L769L
PubMed Link: 30300539
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biotinylated amplicon sequencing: A method for preserving DNA samples of limited quantity.

Practical Laboratory Medicine
Cravero, Karen K; Medford, Arielle A; Pallavajjala, Aparna A; Canzoniero, Jenna J; Hunter, Natasha N; Chu, David D; Cochran, Rory L RL; Waters, Ian I; Christenson, Eric S ES; Kyker-Snowman, Kelly K; Button, Berry B; Cole, Alex J AJ; Park, Ben Ho BH
Publication Date: 2018-11

Variant appearance in text: RET: L769L
PubMed Link: 30140723
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Identification of novel mutations in FFPE lung adenocarcinomas using DEPArray sorting technology and next-generation sequencing.

Journal Of Applied Genetics
Lee, Ji Won JW; Shin, Jong-Yeon JY; Seo, Jeong-Sun JS
Publication Date: 2018-08

Variant appearance in text: RET: L769L
PubMed Link: 29525983
Variant Present in the following documents:
  • 13353_2018_Article_439.pdf
View BVdb publication page



A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11.

Oncology Letters
Lu, Fanqian F; Chen, Xiaohong X; Bai, Yunlong Y; Feng, Yaru Y; Wu, Jian J
Publication Date: 2017-09

Variant appearance in text: RET: L769L
PubMed Link: 28943896
Variant Present in the following documents:
  • Main text
  • ol-14-03-3552.pdf
View BVdb publication page



Investigating the mechanisms of papillary thyroid carcinoma using transcriptome analysis.

Molecular Medicine Reports
Qiu, Jie J; Zhang, Wenwei W; Xia, Qingsheng Q; Liu, Fuxue F; Zhao, Shuwei S; Zhang, Kailing K; Chen, Min M; Zang, Chuanshan C; Ge, Ruifeng R; Liang, Dapeng D; Sun, Yan Y
Publication Date: 2017-11

Variant appearance in text: RET: L769L
PubMed Link: 28849102
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.

Endocrine Pathology
Sromek, Maria M; Czetwertyńska, Małgorzata M; Tarasińska, Magdalena M; Janiec-Jankowska, Aneta A; Zub, Renata R; Ćwikła, Maria M; Nowakowska, Dorota D; Chechlińska, Magdalena M
Publication Date: 2017-09

Variant appearance in text: RET: Leu769Leu
PubMed Link: 28647780
Variant Present in the following documents:
  • Main text
  • 12022_2017_Article_9487.pdf
View BVdb publication page



Disease-modifying polymorphisms and C609Y mutation of RET associated with high penetrance of phaeochromocytoma and low rate of MTC in MEN2A.

Endocrinology, Diabetes & Metabolism Case Reports
Speak, Rowena R; Cook, Jackie J; Harrison, Barney B; Newell-Price, John J
Publication Date: 2016

Variant appearance in text: RET: L769L
PubMed Link: 27994876
Variant Present in the following documents:
  • Main text
  • edmcr-2016-160093.pdf
View BVdb publication page



Novel biomarkers of resistance of pancreatic cancer cells to oncolytic vesicular stomatitis virus.

Oncotarget
Hastie, Eric E; Cataldi, Marcela M; Moerdyk-Schauwecker, Megan J MJ; Felt, Sébastien A SA; Steuerwald, Nury N; Grdzelishvili, Valery Z VZ
Publication Date: 2016-09-20

Variant appearance in text: RET: L769L
PubMed Link: 27533247
Variant Present in the following documents:
  • Main text
  • oncotarget-07-61601.pdf
  • oncotarget-07-61601-s006.xlsx, sheet 1
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: RET: L769L
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



Feasibility of a workflow for the molecular characterization of single cells by next generation sequencing.

Biomolecular Detection And Quantification
Salvianti, Francesca F; Rotunno, Giada G; Galardi, Francesca F; De Luca, Francesca F; Pestrin, Marta M; Vannucchi, Alessandro Maria AM; Di Leo, Angelo A; Pazzagli, Mario M; Pinzani, Pamela P
Publication Date: 2015-09

Variant appearance in text: RET: L769L
PubMed Link: 27077040
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Effect of 3'UTR RET Variants on RET mRNA Secondary Structure and Disease Presentation in Medullary Thyroid Carcinoma.

Plos One
Ceolin, Lucieli L; Romitti, Mirian M; Siqueira, Débora Rodrigues DR; Vaz Ferreira, Carla C; Oliboni Scapineli, Jessica J; Assis-Brazil, Beatriz B; Vieira Maximiano, Rodolfo R; Dias Amarante, Tauanne T; de Souza Nunes, Miriam Celi MC; Weber, Gerald G; Maia, Ana Luiza AL
Publication Date: 2016

Variant appearance in text: RET: L769L
PubMed Link: 26829565
Variant Present in the following documents:
  • Main text
View BVdb publication page



RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.

Oncotarget
Qi, Xiao-Ping XP; Zhao, Jian-Qiang JQ; Chen, Zhen-Guang ZG; Cao, Jin-Lin JL; Du, Juan J; Liu, Nai-Fang NF; Li, Feng F; Sheng, Mao M; Fu, Er E; Guo, Jian J; Jia, Hong H; Zhang, Yi-Ming YM; Ma, Ju-Ming JM
Publication Date: 2015-10-20

Variant appearance in text: RET: L769L
PubMed Link: 26356818
Variant Present in the following documents:
  • Main text
View BVdb publication page



The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies.

Orphanet Journal Of Rare Diseases
Colombo, Carla C; Minna, Emanuela E; Rizzetti, Maria Grazia MG; Romeo, Paola P; Lecis, Daniele D; Persani, Luca L; Mondellini, Piera P; Pierotti, Marco A MA; Greco, Angela A; Fugazzola, Laura L; Borrello, Maria Grazia MG
Publication Date: 2015-03-01

Variant appearance in text: RET: L769L
PubMed Link: 25887804
Variant Present in the following documents:
  • 13023_2015_Article_231.pdf
View BVdb publication page



Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Thyroid : Official Journal Of The American Thyroid Association
Wells, Samuel A SA; Asa, Sylvia L SL; Dralle, Henning H; Elisei, Rossella R; Evans, Douglas B DB; Gagel, Robert F RF; Lee, Nancy N; Machens, Andreas A; Moley, Jeffrey F JF; Pacini, Furio F; Raue, Friedhelm F; Frank-Raue, Karin K; Robinson, Bruce B; Rosenthal, M Sara MS; Santoro, Massimo M; Schlumberger, Martin M; Shah, Manisha M; Waguespack, Steven G SG; ,
Publication Date: 2015-06

Variant appearance in text: RET: L769L
PubMed Link: 25810047
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Genes & Genomics
Sosonkina, Nadiya N; Hong, Seung-Keun SK; Starenki, Dmytro D; Park, Jong-In JI
Publication Date: 2014-12

Variant appearance in text: RET: L769L
PubMed Link: 25530832
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of RET genetic polymorphisms and haplotypes with papillary thyroid carcinoma in the Portuguese population: a case-control study.

Plos One
Santos, Marina M; Azevedo, Teresa T; Martins, Teresa T; Rodrigues, Fernando J FJ; Lemos, Manuel C MC
Publication Date: 2014

Variant appearance in text: RET: L769L
PubMed Link: 25330015
Variant Present in the following documents:
  • Main text
View BVdb publication page



RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.

Plos One
Vaclavikova, Eliska E; Dvorakova, Sarka S; Skaba, Richard R; Pos, Lucie L; Sykorova, Vlasta V; Halkova, Tereza T; Vcelak, Josef J; Bendlova, Bela B
Publication Date: 2014

Variant appearance in text: RET: Leu769Leu
PubMed Link: 24897126
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic alterations in quadruple malignancies of a patient with multiple sclerosis: their role in malignancy development and response to therapy.

International Journal Of Clinical And Experimental Pathology
Milosevic, Zorica Z; Tanic, Nikola N; Bankovic, Jasna J; Stankovic, Tijana T; Buta, Marko M; Lavrnic, Dragana D; Milovanovic, Zorka Z; Pupic, Gordana G; Stojkovic, Sonja S; Milinkovic, Vedrana V; Ito, Yasuhiro Y; Dzodic, Radan R
Publication Date: 2014

Variant appearance in text: RET: L769L
PubMed Link: 24817989
Variant Present in the following documents:
  • Main text
View BVdb publication page



RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis.

Plos One
Liang, Chun-mei CM; Ji, Dong-mei DM; Yuan, Xu X; Ren, Ling-ling LL; Shen, Juan J; Zhang, Hai-yan HY
Publication Date: 2014

Variant appearance in text: RET: L769L
PubMed Link: 24651702
Variant Present in the following documents:
  • Main text
View BVdb publication page



A differential diagnosis of inherited endocrine tumors and their tumor counterparts.

Clinics (Sao Paulo, Brazil)
Toledo, Sergio P A SP; Lourenço, Delmar M DM; Toledo, Rodrigo A RA
Publication Date: 2013-07

Variant appearance in text: RET: L769L
PubMed Link: 23917672
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

Plos One
Cui, Long L; Wong, Emily Hoi-Man EH; Cheng, Guo G; Firmato de Almeida, Manoel M; So, Man-Ting MT; Sham, Pak-Chung PC; Cherny, Stacey S SS; Tam, Paul Kwong-Hang PK; Garcia-Barceló, Maria-Mercè MM
Publication Date: 2013

Variant appearance in text: RET: L769L
PubMed Link: 23840513
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cribriform adenocarcinoma of the tongue and minor salivary glands: a review.

Head And Neck Pathology
Michal, Michal M; Kacerovska, Denisa D; Kazakov, Dmitry V DV
Publication Date: 2013-07

Variant appearance in text: RET: Leu769Leu
PubMed Link: 23821209
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vandetanib in children and adolescents with multiple endocrine neoplasia type 2B associated medullary thyroid carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Fox, Elizabeth E; Widemann, Brigitte C BC; Chuk, Meredith K MK; Marcus, Leigh L; Aikin, Alberta A; Whitcomb, Patricia O PO; Merino, Maria J MJ; Lodish, Maya M; Dombi, Eva E; Steinberg, Seth M SM; Wells, Samuel A SA; Balis, Frank M FM
Publication Date: 2013-08-01

Variant appearance in text: RET: L769L
PubMed Link: 23766359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Network quantification of EGFR signaling unveils potential for targeted combination therapy.

Molecular Systems Biology
Klinger, Bertram B; Sieber, Anja A; Fritsche-Guenther, Raphaela R; Witzel, Franziska F; Berry, Leanne L; Schumacher, Dirk D; Yan, Yibing Y; Durek, Pawel P; Merchant, Mark M; Schäfer, Reinhold R; Sers, Christine C; Blüthgen, Nils N
Publication Date: 2013

Variant appearance in text: RET: L769L; rs142793711
PubMed Link: 23752269
Variant Present in the following documents:
  • msb201329-s3.xls, sheet 1
View BVdb publication page



The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.

Thyroid Research
Fugazzola, Laura L; De Leo, Simone S; Perrino, Michela M
Publication Date: 2013-03-14

Variant appearance in text: MEN2A: L769L
PubMed Link: 23514012
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphism rs17849071 G/T in the PIK3CA gene is inversely associated with follicular thyroid cancer and PIK3CA amplification.

Plos One
Xing, Jeffrey C JC; Tufano, Ralph P RP; Murugan, Avaniyapuram Kannan AK; Liu, Dingxie D; Wand, Gary G; Ladenson, Paul W PW; Xing, Mingzhao M; Trink, Barry B
Publication Date: 2012

Variant appearance in text: RET: L769L
PubMed Link: 23185308
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report.

Case Reports In Endocrinology
Cetin, Deniz D; Unübol, Mustafa M; Soyder, Aykut A; Güney, Engin E; Coşkun, Adil A; Ozbaş, Serdar S; Unsal, Alparslan A; Erkuş, Muhan M
Publication Date: 2012

Variant appearance in text: RET: L769L
PubMed Link: 23119190
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract.

Case Reports In Medicine
Shahnazari, Banafshe B; Aghamaleki, Aria A; Larijani, Bagher B; Mohajeri Tehrani, Mohammad Reza MR; Rafati, Hasan H; Babamahmoodi, Abdolreza A
Publication Date: 2012

Variant appearance in text: RET: Leu769leu
PubMed Link: 23093970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic alterations in medullary thyroid cancer: diagnostic and prognostic markers.

Current Genomics
A, Taccaliti T; F, Silvetti S; G, Palmonella P; M, Boscaro B
Publication Date: 2011-12

Variant appearance in text: RET: L769L
PubMed Link: 22654561
Variant Present in the following documents:
  • Main text
View BVdb publication page



Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome.

Clinics (Sao Paulo, Brazil)
Lendvai, Nikoletta N; Tóth, Miklos M; Valkusz, Zsuzsanna Z; Bekő, Gabriella G; Szücs, Nikolette N; Csajbók, Eva E; Igaz, Péter P; Kriszt, Balázs B; Kovács, Balázs B; Rácz, Károly K; Patócs, Attila A
Publication Date: 2012

Variant appearance in text: RET: L769L
PubMed Link: 22584711
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype-phenotype correlation in multiple endocrine neoplasia type 2.

Clinics (Sao Paulo, Brazil)
Raue, Friedhelm F; Frank-Raue, Karin K
Publication Date: 2012

Variant appearance in text: RET: L769L
PubMed Link: 22584709
Variant Present in the following documents:
  • Main text
View BVdb publication page



RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Clinics (Sao Paulo, Brazil)
Quedas, Elisangela P S EP; Longuini, Viviane C VC; Sekiya, Tomoko T; Coutinho, Flavia L FL; Toledo, Sergio P A SP; Tannuri, Uenis U; Toledo, Rodrigo A RA
Publication Date: 2012

Variant appearance in text: RET: L769L
PubMed Link: 22584707
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis of medullary thyroid carcinoma: the role of RET polymorphisms.

International Journal Of Molecular Sciences
Ceolin, Lucieli L; Siqueira, Débora R DR; Romitti, Mírian M; Ferreira, Carla V CV; Maia, Ana Luiza AL
Publication Date: 2012

Variant appearance in text: RET: L769L
PubMed Link: 22312249
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Journal Of Biomolecular Techniques : Jbt
Margraf, Rebecca L RL; Durtschi, Jacob D JD; Dames, Shale S; Pattison, David C DC; Stephens, Jack E JE; Voelkerding, Karl V KV
Publication Date: 2011-07

Variant appearance in text: RET: L769L
PubMed Link: 21738440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.

Bmc Medical Genetics
Tou, Jinfa J; Wang, Li L; Liu, Li L; Wang, Ying Y; Zhong, Rong R; Duan, Shengyu S; Liu, Weiguang W; Xiong, Qixing Q; Gu, Qinglong Q; Yang, Hong H; Li, Hui H
Publication Date: 2011-02-25

Variant appearance in text: RET: L769L
PubMed Link: 21349203
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-32.pdf
View BVdb publication page



Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

Radiation Research
Sigurdson, Alice J AJ; Land, Charles E CE; Bhatti, Parveen P; Pineda, Marbin M; Brenner, Alina A; Carr, Zhanat Z; Gusev, Boris I BI; Zhumadilov, Zhaxibay Z; Simon, Steven L SL; Bouville, Andre A; Rutter, Joni L JL; Ron, Elaine E; Struewing, Jeffery P JP
Publication Date: 2009-01

Variant appearance in text: RET: L769L
PubMed Link: 19138047
Variant Present in the following documents:
  • Main text
View BVdb publication page



RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

The Journal Of Molecular Diagnostics : Jmd
Margraf, Rebecca L RL; Mao, Rong R; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Wittwer, Carl T CT
Publication Date: 2007-04

Variant appearance in text: RET: L769L
PubMed Link: 17384210
Variant Present in the following documents:
  • Main text
View BVdb publication page



A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

American Journal Of Human Genetics
Borrego, Salud S; Wright, Fred A FA; Fernández, Raquel M RM; Williams, Nita N; López-Alonso, Manuel M; Davuluri, Ramana R; Antiñolo, Guillermo G; Eng, Charis C
Publication Date: 2003-01

Variant appearance in text: RET: L769L
PubMed Link: 12474140
Variant Present in the following documents:
  • Main text
View BVdb publication page